Term Name:	congenital myopathy 14
Synonyms:
Definition:	A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.
Ontology:	Human Disease [DOID:0081346]   ( DOID:0081346 )